Incidental Mutation 'R7737:Adamts18'
| ID |
628459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts18
|
| Ensembl Gene |
ENSMUSG00000053399 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 18 |
| Synonyms |
E130314N14Rik |
| MMRRC Submission |
045793-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R7737 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
114423758-114575370 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 114463566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093113]
[ENSMUST00000212665]
|
| AlphaFold |
Q4VC17 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000093113
|
| SMART Domains |
Protein: ENSMUSP00000090801
Gene: ENSMUSG00000053399
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
63 |
203 |
3.4e-37 |
PFAM |
|
Pfam:Reprolysin_5
|
292 |
473 |
1.3e-14 |
PFAM |
|
Pfam:Reprolysin_4
|
294 |
494 |
2.6e-11 |
PFAM |
|
Pfam:Reprolysin
|
294 |
498 |
2.7e-30 |
PFAM |
|
Pfam:Reprolysin_2
|
311 |
488 |
1.7e-14 |
PFAM |
|
Pfam:Reprolysin_3
|
315 |
447 |
1.5e-11 |
PFAM |
|
TSP1
|
592 |
644 |
7.37e-17 |
SMART |
|
Pfam:ADAM_spacer1
|
749 |
861 |
1.7e-38 |
PFAM |
|
TSP1
|
878 |
932 |
1.55e-1 |
SMART |
|
TSP1
|
934 |
992 |
5.07e-6 |
SMART |
|
TSP1
|
994 |
1049 |
1.65e-5 |
SMART |
|
TSP1
|
1055 |
1116 |
1.71e-3 |
SMART |
|
TSP1
|
1125 |
1171 |
5.27e-4 |
SMART |
|
Pfam:PLAC
|
1186 |
1216 |
1.2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212437
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212665
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (63/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a floxed allele exhibit some fertility defects. Mice homozygous for a null allele exhibit growth and eye defects and increased susceptibility to chemically induced tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap3 |
T |
A |
6: 126,851,065 (GRCm39) |
M861K |
probably damaging |
Het |
| Ankrd42 |
T |
C |
7: 92,254,470 (GRCm39) |
T380A |
possibly damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,250,728 (GRCm39) |
E493G |
possibly damaging |
Het |
| Arvcf |
G |
A |
16: 18,214,966 (GRCm39) |
R119Q |
probably damaging |
Het |
| Asmt |
T |
C |
X: 169,110,175 (GRCm39) |
F228S |
probably damaging |
Het |
| Atp2c2 |
T |
A |
8: 120,469,134 (GRCm39) |
V349E |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,117,419 (GRCm39) |
V233A |
possibly damaging |
Het |
| Brinp3 |
G |
T |
1: 146,558,332 (GRCm39) |
K85N |
probably damaging |
Het |
| Ccr6 |
G |
A |
17: 8,463,926 (GRCm39) |
|
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 133,871,930 (GRCm39) |
S644P |
probably damaging |
Het |
| Ddb1 |
C |
T |
19: 10,603,338 (GRCm39) |
A882V |
possibly damaging |
Het |
| Epha4 |
C |
T |
1: 77,357,649 (GRCm39) |
G783D |
probably damaging |
Het |
| Ephb1 |
T |
A |
9: 101,861,302 (GRCm39) |
I621F |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,530,331 (GRCm39) |
Y93* |
probably null |
Het |
| Fcgbpl1 |
T |
A |
7: 27,856,498 (GRCm39) |
V2095E |
probably damaging |
Het |
| Gak |
A |
C |
5: 108,764,874 (GRCm39) |
L84R |
probably benign |
Het |
| Gm5458 |
A |
T |
14: 19,649,805 (GRCm39) |
|
probably null |
Het |
| Gpatch3 |
C |
G |
4: 133,302,407 (GRCm39) |
Q113E |
probably benign |
Het |
| Gpld1 |
C |
A |
13: 25,159,709 (GRCm39) |
L426M |
probably damaging |
Het |
| Ighmbp2 |
G |
A |
19: 3,324,467 (GRCm39) |
P234S |
unknown |
Het |
| Itga6 |
G |
A |
2: 71,652,787 (GRCm39) |
V217I |
probably benign |
Het |
| Kdm7a |
A |
T |
6: 39,121,338 (GRCm39) |
N872K |
probably benign |
Het |
| Klhl14 |
G |
T |
18: 21,691,191 (GRCm39) |
Y446* |
probably null |
Het |
| Larp4b |
T |
A |
13: 9,220,679 (GRCm39) |
|
probably null |
Het |
| Lct |
A |
T |
1: 128,226,430 (GRCm39) |
W1320R |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,326,782 (GRCm39) |
D1763G |
possibly damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,699,649 (GRCm39) |
N2499Y |
probably damaging |
Het |
| Lsg1 |
T |
C |
16: 30,400,003 (GRCm39) |
|
probably null |
Het |
| Mettl15 |
T |
C |
2: 108,967,723 (GRCm39) |
K188E |
probably damaging |
Het |
| Mfsd4b1 |
A |
G |
10: 39,879,274 (GRCm39) |
S208P |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,164,235 (GRCm39) |
S793P |
possibly damaging |
Het |
| Ms4a14 |
G |
A |
19: 11,280,150 (GRCm39) |
Q803* |
probably null |
Het |
| Mtor |
A |
C |
4: 148,623,195 (GRCm39) |
E2015A |
possibly damaging |
Het |
| Myo15b |
A |
T |
11: 115,778,749 (GRCm39) |
Y2581F |
unknown |
Het |
| Myo7b |
A |
T |
18: 32,147,257 (GRCm39) |
Y95* |
probably null |
Het |
| Nf1 |
A |
G |
11: 79,436,314 (GRCm39) |
I1985V |
probably benign |
Het |
| Noxred1 |
G |
A |
12: 87,268,136 (GRCm39) |
Q332* |
probably null |
Het |
| Nudt21 |
A |
T |
8: 94,749,461 (GRCm39) |
Y202N |
probably damaging |
Het |
| Odad2 |
A |
G |
18: 7,217,890 (GRCm39) |
L608P |
probably damaging |
Het |
| Or1j16 |
A |
T |
2: 36,530,632 (GRCm39) |
I194F |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 115,955,488 (GRCm39) |
S1176T |
probably damaging |
Het |
| Pramel14 |
A |
C |
4: 143,718,526 (GRCm39) |
S306A |
possibly damaging |
Het |
| Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,348,367 (GRCm39) |
|
probably benign |
Het |
| Rbmxl1 |
A |
G |
8: 79,232,252 (GRCm39) |
S364P |
unknown |
Het |
| Rnf24 |
T |
A |
2: 131,145,416 (GRCm39) |
K131N |
probably benign |
Het |
| Scai |
T |
A |
2: 39,013,034 (GRCm39) |
Q132L |
probably damaging |
Het |
| Sh3tc1 |
T |
C |
5: 35,881,297 (GRCm39) |
R49G |
probably benign |
Het |
| Slc12a7 |
A |
G |
13: 73,936,796 (GRCm39) |
E152G |
probably benign |
Het |
| Slc22a27 |
A |
T |
19: 7,874,127 (GRCm39) |
M316K |
probably damaging |
Het |
| Spag1 |
G |
T |
15: 36,210,856 (GRCm39) |
A427S |
probably benign |
Het |
| Speer4a3 |
AACT |
A |
5: 26,155,849 (GRCm39) |
|
probably benign |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Stk16 |
G |
T |
1: 75,187,995 (GRCm39) |
C8F |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,989,622 (GRCm39) |
C1834R |
probably damaging |
Het |
| Tie1 |
C |
T |
4: 118,336,054 (GRCm39) |
|
probably null |
Het |
| Timp2 |
A |
G |
11: 118,194,721 (GRCm39) |
I156T |
probably damaging |
Het |
| Tmem163 |
A |
G |
1: 127,419,347 (GRCm39) |
M286T |
possibly damaging |
Het |
| Tmx4 |
T |
A |
2: 134,481,588 (GRCm39) |
M112L |
probably benign |
Het |
| Trank1 |
G |
T |
9: 111,195,080 (GRCm39) |
E1035* |
probably null |
Het |
| Trim5 |
C |
T |
7: 103,928,771 (GRCm39) |
V57M |
probably damaging |
Het |
| Ubr3 |
A |
G |
2: 69,821,910 (GRCm39) |
S1391G |
probably benign |
Het |
| Vmn1r72 |
A |
T |
7: 11,403,634 (GRCm39) |
S271R |
probably damaging |
Het |
| Xpo5 |
G |
A |
17: 46,547,016 (GRCm39) |
|
probably null |
Het |
| Zfp592 |
A |
T |
7: 80,674,941 (GRCm39) |
H635L |
probably damaging |
Het |
| Zfp791 |
A |
T |
8: 85,838,844 (GRCm39) |
N62K |
probably benign |
Het |
| Zfp998 |
A |
G |
13: 66,581,738 (GRCm39) |
|
probably null |
Het |
| Zmynd11 |
G |
A |
13: 9,745,175 (GRCm39) |
T248M |
probably damaging |
Het |
|
| Other mutations in Adamts18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01290:Adamts18
|
APN |
8 |
114,501,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01548:Adamts18
|
APN |
8 |
114,490,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01556:Adamts18
|
APN |
8 |
114,571,741 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01833:Adamts18
|
APN |
8 |
114,469,728 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02187:Adamts18
|
APN |
8 |
114,439,826 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02551:Adamts18
|
APN |
8 |
114,425,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02756:Adamts18
|
APN |
8 |
114,440,976 (GRCm39) |
splice site |
probably benign |
|
|
IGL03188:Adamts18
|
APN |
8 |
114,425,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03411:Adamts18
|
APN |
8 |
114,490,929 (GRCm39) |
nonsense |
probably null |
|
|
G1patch:Adamts18
|
UTSW |
8 |
114,469,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0119:Adamts18
|
UTSW |
8 |
114,501,585 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0378:Adamts18
|
UTSW |
8 |
114,469,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0410:Adamts18
|
UTSW |
8 |
114,440,990 (GRCm39) |
nonsense |
probably null |
|
|
R0480:Adamts18
|
UTSW |
8 |
114,465,450 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0514:Adamts18
|
UTSW |
8 |
114,465,401 (GRCm39) |
splice site |
probably null |
|
|
R0924:Adamts18
|
UTSW |
8 |
114,432,028 (GRCm39) |
splice site |
probably null |
|
|
R0930:Adamts18
|
UTSW |
8 |
114,432,028 (GRCm39) |
splice site |
probably null |
|
|
R1333:Adamts18
|
UTSW |
8 |
114,431,805 (GRCm39) |
splice site |
probably benign |
|
|
R1441:Adamts18
|
UTSW |
8 |
114,481,194 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2082:Adamts18
|
UTSW |
8 |
114,501,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2146:Adamts18
|
UTSW |
8 |
114,571,635 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2371:Adamts18
|
UTSW |
8 |
114,431,893 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3148:Adamts18
|
UTSW |
8 |
114,465,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3963:Adamts18
|
UTSW |
8 |
114,504,443 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4056:Adamts18
|
UTSW |
8 |
114,464,212 (GRCm39) |
nonsense |
probably null |
|
|
R4486:Adamts18
|
UTSW |
8 |
114,439,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4608:Adamts18
|
UTSW |
8 |
114,464,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4624:Adamts18
|
UTSW |
8 |
114,499,800 (GRCm39) |
nonsense |
probably null |
|
|
R4626:Adamts18
|
UTSW |
8 |
114,499,800 (GRCm39) |
nonsense |
probably null |
|
|
R4627:Adamts18
|
UTSW |
8 |
114,499,800 (GRCm39) |
nonsense |
probably null |
|
|
R4628:Adamts18
|
UTSW |
8 |
114,499,800 (GRCm39) |
nonsense |
probably null |
|
|
R4629:Adamts18
|
UTSW |
8 |
114,499,800 (GRCm39) |
nonsense |
probably null |
|
|
R4710:Adamts18
|
UTSW |
8 |
114,433,558 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4959:Adamts18
|
UTSW |
8 |
114,463,357 (GRCm39) |
nonsense |
probably null |
|
|
R4973:Adamts18
|
UTSW |
8 |
114,463,357 (GRCm39) |
nonsense |
probably null |
|
|
R4976:Adamts18
|
UTSW |
8 |
114,425,642 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5119:Adamts18
|
UTSW |
8 |
114,425,642 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5141:Adamts18
|
UTSW |
8 |
114,501,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5422:Adamts18
|
UTSW |
8 |
114,425,606 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5587:Adamts18
|
UTSW |
8 |
114,501,992 (GRCm39) |
nonsense |
probably null |
|
|
R5868:Adamts18
|
UTSW |
8 |
114,504,380 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5893:Adamts18
|
UTSW |
8 |
114,499,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5906:Adamts18
|
UTSW |
8 |
114,436,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5942:Adamts18
|
UTSW |
8 |
114,504,380 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6006:Adamts18
|
UTSW |
8 |
114,433,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6608:Adamts18
|
UTSW |
8 |
114,501,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6725:Adamts18
|
UTSW |
8 |
114,469,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7002:Adamts18
|
UTSW |
8 |
114,501,922 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7276:Adamts18
|
UTSW |
8 |
114,501,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7292:Adamts18
|
UTSW |
8 |
114,436,277 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7411:Adamts18
|
UTSW |
8 |
114,504,362 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7685:Adamts18
|
UTSW |
8 |
114,439,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7860:Adamts18
|
UTSW |
8 |
114,501,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7936:Adamts18
|
UTSW |
8 |
114,493,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8197:Adamts18
|
UTSW |
8 |
114,481,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8363:Adamts18
|
UTSW |
8 |
114,493,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8759:Adamts18
|
UTSW |
8 |
114,433,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8934:Adamts18
|
UTSW |
8 |
114,463,510 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9405:Adamts18
|
UTSW |
8 |
114,430,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9422:Adamts18
|
UTSW |
8 |
114,501,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9450:Adamts18
|
UTSW |
8 |
114,490,942 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9475:Adamts18
|
UTSW |
8 |
114,504,570 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1088:Adamts18
|
UTSW |
8 |
114,502,072 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1176:Adamts18
|
UTSW |
8 |
114,469,800 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATTCAAACGTGGTCCCTGCG -3'
(R):5'- GTGCATACAAAAGCACACATACTGG -3'
Sequencing Primer
(F):5'- TCCCTGCGAAGGTGAAGTC -3'
(R):5'- TACAAAAGCACACATACTGGGAGAG -3'
|
| Posted On |
2020-04-20 |
Incidental Mutation